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NRXN3 mutations cause developmental delay, movement disorder, and behavioral problems: CRISPR edited cells based WES results.

Gene - 30 May 2023

Kamal Neda, Jafari Khamirani Hossein, Dara Mahintaj, Dianatpour Mehdi

Abstract excerpt

NRXN3geneencodesneurexin-III which is a Neural Cell Adhesion Molecule (NCAM) with important synaptic functions in the brain. Neurexin-III deficiency could affect synapse development, synaptic signaling and neurotransmitter release. Hitherto, there is no related disorder in the OMIM due to NRXN3 mutation. In this study, two unrelated Iranian families with homozygous (NM_001330195.2:c.3995G>A, p.Arg1332His) and...

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Clustered Regularly Interspaced Short Palindromic Repeats
Intellectual Disability
Iran

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Movement Disorders

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PMID: 36898513
DOI: 10.1016/j.gene.2023.147347

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